Varaico: Literature-Extracted Genetic Variants

Gene:ABCD1
Variant:p.E408E

ABCD1

890 papers

RefSeq Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC gen...

Pfam Domains

ABC_membrane_2aa 78–352UCSCABC transporter transmembrane region 2
ABC_tranaa 490–633UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily D member 1

HGNC Previous Symbol

ALD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_000033.4
p.E408E
c.1224G>A
Surrounding Variants
2 papers
NM_000033.4
p.E408_V409Splc
c.1224+2T>G
1 paper
NM_000033.4
p.Y406*
c.1218C>A
2 papers
NM_000033.4
p.Y406*
c.1218C>G
2 papers
NM_000033.4
p.S405S
c.1215G>A
2 papers
NM_000033.4
p.S405S
c.1215G>T
1 paper
NM_000033.4
p.S405*
c.1214C>A
1 paper
NM_000033.4
p.S404*
c.1211C>A
5 papers
NM_000033.4
p.S404P
c.1210T>C
2 papers
NM_000033.4
p.S405del1
c.1213_1214delTCG
1 paper
NM_000033.4
p.M403_S405del0
c.1209_1214del6
1 paper
NM_000033.4
p.M403_S405del3
c.1207_1214del9
2 papers
NM_000033.4
p.I402N
c.1205T>A
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